ReviewBritish medical bulletin1989
Carrier detection and prenatal diagnosis in Duchenne and Becker muscular dystrophy.
Review in British medical bulletin, 1989. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
6 citing papers in PubMed, 19 citations in OpenAlex.
- Chimeric snRNA molecules carrying antisense sequences against the splice junctions of exon 51 of the dystrophin pre-mRNA induce exon skipping and restoration of a dystrophin synthesis in Delta 48-50 DMD cells.Proceedings of the National Academy of Sciences of the United States of America · 2002Article
- Antisense-induced exon skipping and synthesis of dystrophin in the mdx mouse.Proceedings of the National Academy of Sciences of the United States of America · 2001Article
- Fluorescent multiplex linkage analysis and carrier detection for Duchenne/Becker muscular dystrophy.American journal of human genetics · 1992Article
- Analysis of quantitative PCR for the diagnosis of deletion and duplication carriers in the dystrophin gene.Journal of medical genetics · 1992Article
- Human dystrophin gene transfer: production and expression of a functional recombinant DNA-based gene.Human genetics · 1991Article
- A convenient multiplex PCR system for the detection of dystrophin gene deletions: a comparative analysis with cDNA hybridisation shows mistypings by both methods.Journal of medical genetics · 1991Article
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Estimating carrier risks for female relatives of Duchenne (DMD) and Becker (BMD) dystrophy sufferers depends upon calculation of segregational risks, supplemented by enzyme tests which show considerable overlap between carrier and control data. Linkage analysis has substantially increased the accuracy of segregational risk estimation, but a small error rate is still inherent when interpreting results, owing to recombination between the mutation causing the disease, and the marker used. It also requires family studies, which may be difficult to complete. The presence of intragenic DNA deletions in about half of D/BMD boys, allows direct detection of the D/BMD mutation, and is a powerful diagnostic tool. These techniques can be used for both prenatal diagnosis and carrier detection.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.